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Results 1 - 10 of 10 for Immunodeficiency 23
  1. ZAP70 gene 
    ... Walkovich K, Vander Lugt M. ZAP70-Related Combined Immunodeficiency. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/zap70 - Genetics
  2. STAT1 gene 
    ... caused by STAT1 gene mutations is sometimes called immunodeficiency 31C.The STAT1 gene mutations that have been ... the variety of features that can occur in immunodeficiency 31C, but the specific mechanisms are not well ...
    https://medlineplus.gov/genetics/gene/stat1 - Genetics
  3. STIM1 gene 
    ... gene cause an immune system disorder called primary immunodeficiency 10. Because of immune system problems, individuals with ... be life-threatening. The mutations that cause primary immunodeficiency 10 are known as "loss-of-function" mutations ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  4. SP110 gene 
    ... found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). This condition is characterized by recurrent infections ... PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006 ...
    https://medlineplus.gov/genetics/gene/sp110 - Genetics
  5. XIAP gene 
    ... K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis ... populations. Clin Immunol. 2009 Jul;132(1):116-23. doi: 10.1016/j.clim.2009.03.517. ...
    https://medlineplus.gov/genetics/gene/xiap - Genetics
  6. ADAR gene 
    ... and spread of certain viruses, such as human immunodeficiency virus (HIV) and hepatitis C, by modifying their ... doi: 10.1038/ng.2414. Epub 2012 Sep 23. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  7. HIVEP2 gene 
    ... SHN2 ZAS2 ZNF40B Tests of HIVEP2 PubMed HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2 ... O-GlcNAc) transferase. J Biol Chem. 2012 Mar 23;287(13):9887-9900. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/gene/hivep2 - Genetics
  8. SAMHD1 gene 
    ... cells, however; invading viruses such as the human immunodeficiency virus (HIV) also need dNTPs to make copies ... j.jmb.2013.10.022. Epub 2013 Oct 23. Citation on PubMed
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  9. PGM3 gene 
    ... cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ...
    https://medlineplus.gov/genetics/gene/pgm3 - Genetics
  10. IKBKG gene 
    ... Casanova JL. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat ...
    https://medlineplus.gov/genetics/gene/ikbkg - Genetics